CompletedNot Applicable

Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids

France20 participantsStarted 2006-06

Plain-language summary

Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies: * limitation of lipid intake in the diet; * supplementation of the diet with medium-chain triglycerides (MCT) for patients affected with disorders of long-chain FAO; * some specific supplementations (for example, L-carnitine). These strategies are often ineffective. The aim of the present study is to evaluate new therapeutic ways based on the underlying energetic defect observed in these disorders. The long-term goal is to develop efficient therapies of these disorders.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Patient with an enzyme deficiency of carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP). * Covered by health and social insurance * Written informed consent Exclusion Criteria: * Patient affected with FAO dysfunction secondary to other cause (e.g. mitochondrial respiratory chain disorders) * Patient with suspected FAO disorder that has not been proven (by enzymatic or molecular test)

What they're measuring

Strength tests

Timeframe: 24 months

Biological parameters (acylcarnitines profile, modifications of urinary organic acids)

Timeframe: 24 months

Clinical parameters (echocardiography)

Timeframe: 24 months

Trial details

NCT IDNCT00328159

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2010-06

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